Browsing by Author "Alsheikh Ali, Alawi"

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Pathogenic variation underlying rare diseases in an Arab Population: implications for screening programs
(Springer Science and Business Media LLC, 2024-11-12) Chekroun, Ikram; Rabea, Fatma; Abuijlan, Eman; Uddin, Mohammed; Almarri, Mohamed; Alkhnbashi, Omer S; Khansaheb, Hamda H; Al Suwaidi, Hanan; Du Plessis, Stefan S; Alsheikh Ali, Alawi; Tayoun, Ahmad Abou
Background: Genetic variation underlying rare diseases in Arab populations is poorly understood, limiting effective carrier screening for recessive disorders which are prevalent due to high consanguineous rates. Methods: Using the ACMG/AMP guidelines, we curated pathogenic and likely pathogenic variants in 1,333 Arab Emirati families (346 internal cohort and 987 from the literature). We also analyzed coding pathogenic variants in 1,194 Emirati exomes, calculated allele frequencies, and estimated carrier rates for the associated recessive conditions. Results: Among the 1,333 families, 701 out of 855 variants met the ACMG/AMP criteria for pathogenicity, with 52% and 30% being absent from the gnomAD and ClinVar databases, respectively. Independently, we determined the frequency of coding pathogenic variants in 1,194 Emirati exomes as well as cumulative gene-disease carrier rates. The CYP21A2 gene showed the highest carrier rate (10.6%) followed by HBB (9.6%), MEFV (5.9%) and ABCA4 (4.3%). Using a provisional gene list for carrier screening, based on our analysis, we estimate the rate of at-risk couples (4–21%) which varies across different screening gene lists recommended in other populations. Conclusion: Our findings emphasize the necessity of identifying prevalent diseases in underrepresented populations to develop effective and equitable preventive public health measures, including premarital screening programs.
Unveiling the dynamics of antimicrobial utilization and resistance in a large hospital network over five years: Insights from health record data analysis
(2023-12) Senok, Abiola; Alsuwaidi, Hanan; Alsheikh Ali, Alawi
Abstract: Antimicrobial Resistance (AMR) presents a pressing public health challenge globally which has been compounded by the COVID-19 pandemic. Elucidation of the impact of the pandemic on AMR evolution using population-level data that integrates clinical, laboratory and prescription data remains lacking. Data was extracted from the centralized electronic platform which captures the health records of 60,551 patients with a confirmed infection across the network of public healthcare facilities in Dubai, United Arab Emirates. For all inpatients and outpatients diagnosed with bacterial infection between 01/01/2017 and 31/05/2022, structured and unstructured Electronic Health Record data, microbiological laboratory data including antibiogram, molecular typing and COVID-19 testing information as well as antibiotic prescribing data were extracted curated and linked. Various analytical methods, including time-series analysis, natural language processing (NLP) and unsupervised clustering algorithms, were employed to investigate the trends of antimicrobial usage and resistance over time, assess the impact of prescription practices on resistance rates, and explore the effects of COVID-19 on antimicrobial usage and resistance. Our findings identified a significant impact of COVID-19 on antimicrobial prescription practices, with short-term and long-lasting over-prescription of these drugs. Resistance to antimicrobials increased the odds ratio of all mortality to an average of 2.18 (95% CI: 1.87-2.49) for the most commonly prescribed antimicrobials. Moreover, the effects of antimicrobial prescription practices on resistance were observed within one week of initiation. Significant trends in antimicrobial resistance, exhibiting fluctuations for various drugs and organisms, with an overall increasing trend in resistance levels, particularly post-COVID-19 were identified. This study provides a population-level insight into the evolution of AMR in the context of COVID-19 pandemic. The findings emphasize the impact of COVID-19 on the AMR crisis, which remained evident even two years after the onset of the pandemic. This underscores the necessity for enhanced antimicrobial stewardship to address the evolution of AMR.